Gene Expression in MuscleRichard C. Strohman, Stewart G. Wolf This volume contains the edited transcript of an interdisci plinary colloquium held at Totts Gap Medical Research Laboratories, Bangor, Pennsylvania on October 12-14, 1983 under the sponsorship of the Muscular Dystrophy Association. The aim was to illuminate the pathogenic mechanism of Duchenne Muscular Dystrophy through a synthesis of available data on gene expression in muscle. In the informal give and take ot the collo quium, the participants found themselves engaged in mutual education and enlightenment as they attempted to put together what is known and to highlight what is not known about the subject. Significant research into muscle as a tissue and muscle disease began only about 50 years ago although the description of muscular dystrophy by Guillaume Benjamin Amand Duchenne de Boulogne had been published in 1862. By 1943 it was clear that Duchenne muscular dystrophy was an X-linked genetic disorder. Up to the present, however, the offending gene has not been identified although its location on the short arm of the X chromosome has been approximately determined. The gene product associated with the initial disturbance in skeletal muscle has also remained elusive up to now. Moreover, investigations into the mechanisms of the muscle degeneration have been hampered by ignorance of the fundamental phenotypic expression of the genetic disorder. |
Contents
CLINICAL PERSPECTIVE PHENOTYPIC EXPRESSION | 3 |
ONTOLOGIC PERSPECTIVE TERMINAL DIFFEREN | 15 |
HEREDITARY METABOLIC MYOPATHIES | 25 |
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abnormal acid actin actin gene activity adult fast myosin aldolase analysis ATPase Biochem Biol BLAU C-protein Ca2+ cardiac actin cDNA cell cultures chick chicken chromosome clones contain contractile proteins denervated detected disease Duchenne dystrophy Duchenne muscular dystrophy dystrophic muscle embryonic myosin enzyme factors fast-twitch fetal fiber types fibroblasts Figure filaments fusion gene expression genetic glycogen growth heterokaryons Holtzer human muscle hybrid hypothyroid innervation isoforms isomyosins isozymes kinase labeled lane mature monoclonal antibody mouse muscle mRNA muscle cells muscle cultures muscle differentiation muscle fibers muscle-specific myoblasts myogenesis myogenic cells myopathy myosin heavy chain myosin isozymes myosin light chains myotubes neonatal myosin nerve Neurol non-muscle nuclei parvalbumin patients pectoralis peptide phenotype present probe receptor regeneration region regulation satellite cells sequence skeletal muscle actin slow myosin soleus muscle specific staining stimulation Strohman studies subunits synthesis temporalis tissue transferrin tropomyosin vitro